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Pediatrics28 papers

Microcolon

Last edited: 4/14/2026

Overview

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by severe functional obstruction of the urinary bladder and gastrointestinal tract, leading to megacystis, microcolon, and abdominal distension, predominantly affecting female neonates 1215.

Diagnosis

  • Key Diagnostic Criteria: Megacystis, microcolon, and functional intestinal obstruction without mechanical obstruction 11013.
  • Recommended Tests:
  • - Prenatal ultrasound showing bladder distension and urinary tract dilation 214. - Postnatal imaging including abdominal X-rays, barium enema, and MRI for detailed anatomical assessment 213. - Manometric studies to evaluate intestinal motility 20.
  • Genetic Considerations: Suspect autosomal recessive inheritance, especially in siblings or consanguineous parents 515.
  • Management

  • First-Line Treatments:
  • - Symptomatic management including total parenteral nutrition (TPN) 19. - Pharmacological interventions such as bethanechol to stimulate motility, though efficacy varies 25.
  • Adjunctive Treatments:
  • - Intestinal diversions (e.g., jejunostomy, gastrostomy) post-TPN stabilization 19. - Multivisceral transplantation in severe cases with multi-organ failure 3.

    Special Populations

  • Pregnancy: Prenatal diagnosis via ultrasound and MRI crucial for planning management 214.
  • Pediatrics: Focus on supportive care and early intervention; survival rare beyond infancy 119.
  • Comorbidities: Cholestatic liver failure may necessitate combined liver and intestinal transplantation 3.
  • Key Recommendations

  • Prenatal Ultrasound Monitoring: Regular prenatal ultrasounds to detect early signs of bladder distension and urinary tract dilation for timely intervention 214 (Evidence: Moderate).
  • Early Postnatal Imaging: Confirm diagnosis with postnatal imaging studies including barium enema and MRI to assess extent of intestinal involvement 132 (Evidence: Moderate).
  • Initiate Total Parenteral Nutrition: For patients with severe functional obstruction, initiate TPN early to support nutritional status 19 (Evidence: Weak).
  • Consider Multivisceral Transplantation: In cases with multi-organ failure, evaluate multivisceral transplantation as a potential life-saving measure 3 (Evidence: Expert opinion).
  • Genetic Counseling: Offer genetic counseling to families with affected siblings or consanguineous parents due to potential autosomal recessive inheritance 515 (Evidence: Moderate).
  • References

    1 Mc Laughlin D, Puri P. Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatric surgery international 2013. link 2 Munch EM, Cisek LJ, Roth DR. Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome. Urology 2009. link 3 Raofi V, Beatty E, Testa G, Abcarian H, Oberholzer J, Sankary H et al.. Combined living-related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome. Journal of pediatric surgery 2008. link 4 Narayanan M, Murphy MS, Ainsworth JR, Arul GS. Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor. Journal of pediatric surgery 2007. link 5 Köhler M, Pease PW, Upadhyay V. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2004. link 6 Piaseczna Piotrowska A, Rolle U, Solari V, Puri P. Interstitial cells of Cajal in the human normal urinary bladder and in the bladder of patients with megacystis-microcolon intestinal hypoperistalsis syndrome. BJU international 2004. link 7 Bloom TL, Kolon TF. Severe megacystis and bilateral hydronephrosis in a female fetus. Urology 2002. link01595-9) 8 Lashley DB, Masliah E, Kaplan GW, McAleer IM. Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic outflow obstruction. Urology 2000. link00499-4) 9 Al Harbi A, Tawil K, Crankson SJ. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus. Pediatric surgery international 1999. link 10 Makhija PS, Magdalene KF, Babu MK. Megacystis microcolon intestinal hypoperistalsis syndrome. Indian journal of pediatrics 1999. link 11 Ciftci AO, Cook RC, van Velzen D. Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis. Journal of pediatric surgery 1996. link90058-5) 12 Dewan PA, Brown N, Murthy DP, Danga-Christian B, Haan E, Byard RW et al.. Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndrome. Journal of paediatrics and child health 1995. link 13 Kupferman JC, Stewart CL, Schapfel DM, Kaskel FJ, Fine RN. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatric nephrology (Berlin, Germany) 1995. link 14 Carlsson SA, Hökegård KH, Mattsson LA. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases. Acta obstetricia et gynecologica Scandinavica 1992. link 15 Annerén G, Meurling S, Olsen L. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature. American journal of medical genetics 1991. link 16 Garber A, Shohat M, Sarti D. Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings. Prenatal diagnosis 1990. link 17 Taguchi T, Ikeda K, Shono T, Goto S, Kubota M, Kawana T et al.. Autonomic innervation of the intestine from a baby with megacystis microcolon intestinal hypoperistalsis syndrome: I. Immunohistochemical study. Journal of pediatric surgery 1989. link80564-0) 18 Vintzileos AM, Eisenfeld LI, Herson VC, Ingardia CJ, Feinstein SJ, Lodeiro JG. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature. American journal of perinatology 1986. link 19 Gillis DA, Grantmyre EB. Megacystis-microcolon-intestinal hypoperistalsis syndrome: survival of a male infant. Journal of pediatric surgery 1985. link80122-6) 20 Tomomasa T, Itoh Z, Koizumi T, Kitamura T, Suzuki N, Matsuyama S et al.. Manometric study on the intestinal motility in a case of megacystis-microcolon-intestinal hypoperistalsis syndrome. Journal of pediatric gastroenterology and nutrition 1985. link 21 Vinograd I, Mogle P, Lernau OZ, Nissan S. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Archives of disease in childhood 1984. link 22 Kirtane J, Talwalker V, Dastur DK. Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis. Journal of pediatric surgery 1984. link80454-6) 23 Redman JF, Jimenez JF, Golladay ES, Seibert JJ. Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of the literature. The Journal of urology 1984. link50738-7) 24 Puri P, Lake BD, Gorman F, O'Donnell B, Nixon HH. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. Journal of pediatric surgery 1983. link80275-9) 25 Jona JZ, Werlin SL. The megacystis microcolon intestinal hypoperistalsis syndrome: report of a case. Journal of pediatric surgery 1981. link80571-4) 26 Young LW, Yunis EJ, Girdany BR, Sieber WK. Megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical, radiologic, surgical, and histopathologic aspects. AJR. American journal of roentgenology 1981. link 27 Krook PM. Megacystis-microcolon-intestinal hypoperistalsis syndrome in a male infant. Radiology 1980. link

    Original source

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      Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.Mc Laughlin D, Puri P Pediatric surgery international (2013)
    2. [2]
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      Combined living-related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome.Raofi V, Beatty E, Testa G, Abcarian H, Oberholzer J, Sankary H et al. Journal of pediatric surgery (2008)
    4. [4]
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      Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.Köhler M, Pease PW, Upadhyay V European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie (2004)
    6. [6]
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      Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus.Al Harbi A, Tawil K, Crankson SJ Pediatric surgery international (1999)
    10. [10]
      Megacystis microcolon intestinal hypoperistalsis syndrome.Makhija PS, Magdalene KF, Babu MK Indian journal of pediatrics (1999)
    11. [11]
    12. [12]
      Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndrome.Dewan PA, Brown N, Murthy DP, Danga-Christian B, Haan E, Byard RW et al. Journal of paediatrics and child health (1995)
    13. [13]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome.Kupferman JC, Stewart CL, Schapfel DM, Kaskel FJ, Fine RN Pediatric nephrology (Berlin, Germany) (1995)
    14. [14]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases.Carlsson SA, Hökegård KH, Mattsson LA Acta obstetricia et gynecologica Scandinavica (1992)
    15. [15]
    16. [16]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings.Garber A, Shohat M, Sarti D Prenatal diagnosis (1990)
    17. [17]
      Autonomic innervation of the intestine from a baby with megacystis microcolon intestinal hypoperistalsis syndrome: I. Immunohistochemical study.Taguchi T, Ikeda K, Shono T, Goto S, Kubota M, Kawana T et al. Journal of pediatric surgery (1989)
    18. [18]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature.Vintzileos AM, Eisenfeld LI, Herson VC, Ingardia CJ, Feinstein SJ, Lodeiro JG American journal of perinatology (1986)
    19. [19]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome: survival of a male infant.Gillis DA, Grantmyre EB Journal of pediatric surgery (1985)
    20. [20]
      Manometric study on the intestinal motility in a case of megacystis-microcolon-intestinal hypoperistalsis syndrome.Tomomasa T, Itoh Z, Koizumi T, Kitamura T, Suzuki N, Matsuyama S et al. Journal of pediatric gastroenterology and nutrition (1985)
    21. [21]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome.Vinograd I, Mogle P, Lernau OZ, Nissan S Archives of disease in childhood (1984)
    22. [22]
      Megacystis, microcolon, intestinal hypoperistalsis syndrome: possible pathogenesis.Kirtane J, Talwalker V, Dastur DK Journal of pediatric surgery (1984)
    23. [23]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of the literature.Redman JF, Jimenez JF, Golladay ES, Seibert JJ The Journal of urology (1984)
    24. [24]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy.Puri P, Lake BD, Gorman F, O'Donnell B, Nixon HH Journal of pediatric surgery (1983)
    25. [25]
      The megacystis microcolon intestinal hypoperistalsis syndrome: report of a case.Jona JZ, Werlin SL Journal of pediatric surgery (1981)
    26. [26]
      Megacystis-microcolon-intestinal hypoperistalsis syndrome: additional clinical, radiologic, surgical, and histopathologic aspects.Young LW, Yunis EJ, Girdany BR, Sieber WK AJR. American journal of roentgenology (1981)
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